Genetic and Developmental Disorders: Student/Resident Case Report Poster - Genetic and Developmental Disorders |

An Uncommon Inherited Thrombophilia in a Newly Diagnosed HIV/AIDS Young African-American Man Presenting With PJP and Saddle Pulmonary Embolus FREE TO VIEW

John Mark Pabona, MD; Camille Edwards, MD; Elizabeth Stone, PhD; Alexis Cunningham, MD; Meena Ahluwalia, MD; Karen Simon, MD; Raji Ayinla, MD
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Harlem Hospital Center (an affiliate of Columbia University College of Physicians and Surgeons), New York, NY

Copyright 2016, American College of Chest Physicians. All Rights Reserved.

Chest. 2016;150(4_S):645A. doi:10.1016/j.chest.2016.08.738
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SESSION TITLE: Student/Resident Case Report Poster - Genetic and Developmental Disorders

SESSION TYPE: Student/Resident Case Report Poster

PRESENTED ON: Tuesday, October 25, 2016 at 01:30 PM - 02:30 PM

INTRODUCTION: Prothrombin G20210A mutation is the second most common inherited risk factor for thrombosis after Factor V Leiden mutation. Heterozygotes have a 2-4 fold increased risk for venous thrombosis. The mutation is extremely uncommon in non-Caucasian population with <1% of the African American, Asian and Native American populations combined. This case highlights a rare mutation in a young African American man newly diagnosed with HIV/AIDS presenting with Pneumocystis jiroveci pneumonia (PJP) and saddle pulmonary embolism (PE)

CASE PRESENTATION: A 28-year-old African American man presented to the emergency department with worsening dyspnea associated with productive cough and pleuritic chest pain. The patient had been well until three weeks before, when poor appetite and unintentional 15-lbs weight loss was noted followed one week later by dyspnea and productive cough of whitish phlegm associated with right-sided pleuritic chest pain. He denied fever, chills, hemoptysis, night sweats, palpitations, rash, sick contacts or history of recent travel. On exam, he was in respiratory distress with temperature of 38.3°C, blood pressure of 122/66 mmHg, pulse of 98 beats/min and respiratory rate of 24 breaths/min. Remaining exam was unremarkable. The arterial blood gas on room air was: pH-7.443, pO2-67.9, pCO2-34.4, HCO3-23.2, O2 sats-92.3%, and A-a gradient of 39. LDH and homocysteine levels were elevated at 651 U/L and 17.8 µmol/L, respectively. Rapid HIV test immunoassay was positive (CD4 count-34; viral load-322,000 copies/ml). Chest CT-scan revealed acute saddle PE of the right lower lobe segmental pulmonary arteries and ground glass opacifications in bilateral lower lobes. Patient was given bactrim, prednisone, ceftriaxone and lovenox for PJP as well as acute PE. After resolution of symptoms, the patient was discharged on bactrim, prednisone, azithromycin, and warfarin. On follow-up, the patient was noted to be positive for one copy of the prothrombin G20210A gene (heterozygote) mutation. Patient was also started on antiretroviral therapy with repeat CD4 count of 414 and 172 viral RNA copies/ml after 1 month of therapy

DISCUSSION: Genetics has a very important role in inherited thrombophilia. Defects in the prothrombin gene is due to the polymorphism located in the non-coding region (nucleotide 20210) replacing guanine with adenosine causing change in polyadenylation pattern of prothrombin mRNA. Presence of mutation is associated with the elevation of prothrombin to about 30% above normal in heterozygotes and to 70% above normal in homozygotes

CONCLUSIONS: This is the only reported case of a patient with inherited thrombophilia presenting with PE and newly diagnosed HIV/AIDs upon exhaustive review of the literature. Probable causes for this patient's PE are the presence of a prothrombin G20210A mutation that leads to hyperprothrombin state and the HIV infection.

Reference #1: Rosendaal FR, Reitsma PH. Genetics of venous thrombosis. J Thromb Haemost. 2009 7Suppl 1:301-4.

DISCLOSURE: The following authors have nothing to disclose: John Mark Pabona, Camille Edwards, Elizabeth Stone, Alexis Cunningham, Meena Ahluwalia, Karen Simon, Raji Ayinla

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